Varaico: Literature-Extracted Genetic Variants

JARID2

206 papers

RefSeq Summary

This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. The encoded protein is a DNA-binding protein that functions as a transcriptional repressor. This protein i...

Pfam Domains

JmjNaa 558–591UCSCjmjN domain

ARIDaa 623–709UCSCARID/BRIGHT DNA binding domain

JmjCaa 916–1031UCSCJmjC domain, hydroxylase

Gene Aliases

HGNC Name

jumonji and AT-rich interaction domain containing 2

HGNC Previous Symbol

JMJ

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004973.4

p.K775Q

c.2323A>C

Surrounding Variants

2 papers

NM_004973.4

p.R771H

c.2312G>A

1 paper

NM_004973.4

p.Q779R

c.2336A>G

1 paper

NM_004973.4

p.Q781*

c.2341C>T

2 papers

NM_004973.4

p.G769S

c.2305G>A

1 paper

NM_004973.4

p.G763S

c.2287G>A

1 paper

NM_004973.4

p.R788*

c.2362C>T

4 papers

NM_004973.4

p.R788Q

c.2363G>A

1 paper

NM_004973.4

p.R753H

c.2258G>A

2 papers

NM_004973.4

p.P752L

c.2255C>T

1 paper

NM_004973.4

p.P752S

c.2254C>T

1 paper

NM_004973.4

p.D803N

c.2407G>A

5 papers

NM_004973.4

p.V806I

c.2416G>A